Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S188L
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MC4R

NM_005912.3:p.S188L

Associated Papers

Medical semiology of patients with monogenic obesity: A systematic review.

Renard E et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024

38956946 (PubMed )
Supplement: supplement_1.pdf

Molecular Analysis and Conformational Dynamics of Human MC4R Disease-Causing Mutations.

Fatima MT et al.

Molecules (basel, Switzerland), 2022

Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics.

Aykut A et al.

European Journal of Pediatrics, 2020

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.

Collet TH et al.

Molecular Metabolism, 2017

29031731 (PubMed )
Supplement: mmc2.xlsx › Table_S2
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."